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Items: 1 to 20 of 103


A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.

Girisha KM, Bidchol AM, Kamath PS, Shah KH, Mortier GR, Mundlos S, Shah H.

Am J Med Genet A. 2014 Apr;164A(4):898-906. doi: 10.1002/ajmg.a.36367. Epub 2014 Jan 29.


A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.

Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B.

Hum Mutat. 2010 Jan;31(1):81-9. doi: 10.1002/humu.21142.


A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.

Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A.

Hum Mutat. 2012 Jul;33(7):1063-6. doi: 10.1002/humu.22097. Epub 2012 May 11.


A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency.

Al-Qattan MM, Al Abdulkareem I, Al Haidan Y, Al Balwi M.

Am J Med Genet A. 2012 Oct;158A(10):2610-5. doi: 10.1002/ajmg.a.35584. Epub 2012 Aug 17.


A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.

VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N.

Hum Mutat. 2014 Aug;35(8):945-8. doi: 10.1002/humu.22581. Epub 2014 Jun 3.


Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly.

Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MB.

Am J Med Genet A. 2007 Jan 1;143A(1):27-32.


A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly.

VanderMeer JE, Afzal M, Alyas S, Haque S, Ahituv N, Malik S.

Am J Med Genet A. 2012 Aug;158A(8):2031-5. doi: 10.1002/ajmg.a.35473. Epub 2012 Jul 11.


ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers.

Norbnop P, Srichomthong C, Suphapeetiporn K, Shotelersuk V.

J Hum Genet. 2014 Aug;59(8):467-70. doi: 10.1038/jhg.2014.50. Epub 2014 Jun 26.


Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36.

Al-Qattan MM, Shamseldin HE, Al Mazyad M, Al Deghaither S, Alkuraya FS.

Am J Med Genet A. 2013 Jul;161A(7):1579-84. doi: 10.1002/ajmg.a.35956. Epub 2013 May 17.


Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.

Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH, Zhang X.

J Med Genet. 2008 Sep;45(9):589-95. doi: 10.1136/jmg.2008.057646. Epub 2008 Apr 16.


Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes.

Semerci CN, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, Akarsu NA.

Clin Genet. 2009 Jul;76(1):85-90. doi: 10.1111/j.1399-0004.2009.01192.x. Epub 2009 Jun 9.


A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.

Furniss D, Lettice LA, Taylor IB, Critchley PS, Giele H, Hill RE, Wilkie AO.

Hum Mol Genet. 2008 Aug 15;17(16):2417-23. doi: 10.1093/hmg/ddn141. Epub 2008 May 7.


Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.

Farooq M, Troelsen JT, Boyd M, Eiberg H, Hansen L, Hussain MS, Rehman Su, Azhar A, Ali A, Bakhtiar SM, Tommerup N, Baig SM, Kjaer KW.

Eur J Hum Genet. 2010 Jun;18(6):733-6. doi: 10.1038/ejhg.2009.225. Epub 2010 Jan 13.


A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.

Lettice LA, Heaney SJ, Purdie LA, Li L, de Beer P, Oostra BA, Goode D, Elgar G, Hill RE, de Graaff E.

Hum Mol Genet. 2003 Jul 15;12(14):1725-35.


Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.

Vanlerberghe C, Faivre L, Petit F, Fruchart O, Jourdain AS, Clavier F, Gay S, Manouvrier-Hanu S, Escande F.

Clin Genet. 2015 Nov;88(5):479-83. doi: 10.1111/cge.12534. Epub 2015 Jan 6.


Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): a case report.

Cho TJ, Baek GH, Lee HR, Moon HJ, Yoo WJ, Choi IH.

J Pediatr Orthop B. 2013 May;22(3):219-21. doi: 10.1097/BPB.0b013e32835106b2. Review.


Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.

Dai L, Guo H, Meng H, Zhang K, Hu H, Yao H, Bai Y.

Eur J Pediatr. 2013 Nov;172(11):1467-73. doi: 10.1007/s00431-013-2071-y. Epub 2013 Jun 22. Review.


Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly.

Li H, Wang CY, Wang JX, Wu GS, Yu P, Yan XY, Chen YG, Zhao LH, Zhang YP.

Eur J Hum Genet. 2009 May;17(5):604-10. doi: 10.1038/ejhg.2008.240. Epub 2008 Dec 10.

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